Hb Cambridge-MA [β144(HC1)-β146(HC3)Lys-Tyr-His→0 (HBB c.433 A>T)]: A new high oxygen affinity variant

Jennifer Oliveira, Kenneth Swanson, Patricia Wendt, Thomas D. Caughey, James Hoyer

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

A new β hemoglobin (Hb) variant, Hb Cambridge-MA [β144(HC1) β146(HC3)Lys-Tyr-His→0 (AAG>TAG) (HGVS: HBB c.433 A>T] is described. The variant was characterized by high performance liquid chromatography (HPLC), alkaline, acid, globin chain and capillary electrophoresis, isoelectric focusing (IEF), heat and isopropanol stability, p50 analyses, intact globin mass spectrometry (MS) and DNA sequencing. The new variant shows high oxygen (O 2) affinity and is associated with mild polycythemia.

Original languageEnglish (US)
Pages (from-to)565-571
Number of pages7
JournalHemoglobin
Volume34
Issue number6
DOIs
StatePublished - Dec 1 2010

Fingerprint

Globins
Oxygen
Capillary electrophoresis
Polycythemia
2-Propanol
Capillary Electrophoresis
High performance liquid chromatography
Isoelectric Focusing
DNA Sequence Analysis
Mass spectrometry
Mass Spectrometry
Hemoglobins
Hot Temperature
High Pressure Liquid Chromatography
Acids
DNA
hemoglobin Cambridge-MA

Keywords

  • Cambridge
  • Congenital
  • Erythrocytosis
  • Hemoglobin (Hb) variant
  • Hemoglobinopathy
  • High oxygen (O ) affinity
  • Left-shifted dissociation curve
  • p50
  • Polycythemia

ASJC Scopus subject areas

  • Hematology
  • Genetics(clinical)
  • Clinical Biochemistry
  • Biochemistry, medical

Cite this

Hb Cambridge-MA [β144(HC1)-β146(HC3)Lys-Tyr-His→0 (HBB c.433 A>T)] : A new high oxygen affinity variant. / Oliveira, Jennifer; Swanson, Kenneth; Wendt, Patricia; Caughey, Thomas D.; Hoyer, James.

In: Hemoglobin, Vol. 34, No. 6, 01.12.2010, p. 565-571.

Research output: Contribution to journalArticle

Oliveira, Jennifer ; Swanson, Kenneth ; Wendt, Patricia ; Caughey, Thomas D. ; Hoyer, James. / Hb Cambridge-MA [β144(HC1)-β146(HC3)Lys-Tyr-His→0 (HBB c.433 A>T)] : A new high oxygen affinity variant. In: Hemoglobin. 2010 ; Vol. 34, No. 6. pp. 565-571.
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